J Genet Med.  2018 Dec;15(2):55-63. 10.5734/JGM.2018.15.2.55.

Integrated diagnostic approach of pediatric neuromuscular disorders

• Lee HN
• Lee YM

• KMID: 2435943
• DOI: http://doi.org/10.5734/JGM.2018.15.2.55

Abstract

Clinical and genetic heterogeneity in association with overlapping spectrum is characteristic in pediatric neuromuscular disorders, which makes confirmative diagnosis difficult and time consuming. Considering evolution of molecular genetic diagnosis and resultant upcoming genetically modifiable therapeutic options, rapid and cost-effective genetic testing should be applied in conjunction with existing diagnostic methods of clinical examinations, laboratory tests, electrophysiologic studies and pathologic studies. Earlier correct diagnosis would enable better clinical management for these patients in addition to new genetic drug options and genetic counseling.

Keyword

Pediatrics; Neuromuscular diseases; Phenotype; Molecular diagnostic techniques

MeSH Terms

Diagnosis
Genetic Counseling
Genetic Heterogeneity
Genetic Testing
Humans
Molecular Biology
Molecular Diagnostic Techniques
Neuromuscular Diseases
Pediatrics
Phenotype